Year |
Citation |
Score |
2009 |
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, et al. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics. 84: 792-800. PMID 19520207 DOI: 10.1016/J.Ajhg.2009.05.007 |
0.646 |
|
2003 |
Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, Cosgrove D, Morton CC, Swaroop A, Jablonski MM. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. Journal of Medical Genetics. 40: e118. PMID 14627685 DOI: 10.1136/Jmg.40.11.E118 |
0.581 |
|
2003 |
Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic Genetics. 24: 215-23. PMID 14566651 DOI: 10.1076/Opge.24.4.215.17228 |
0.652 |
|
2002 |
Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Experimental Eye Research. 75: 431-43. PMID 12387791 DOI: 10.1006/Exer.2002.2037 |
0.674 |
|
2002 |
Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. American Journal of Human Genetics. 70: 1545-54. PMID 11992260 DOI: 10.1086/340848 |
0.654 |
|
1998 |
Yan D, Swain PK, Breuer D, Tucker RM, Wu W, Fujita R, Rehemtulla A, Burke D, Swaroop A. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). The Journal of Biological Chemistry. 273: 19656-63. PMID 9677393 DOI: 10.1074/Jbc.273.31.19656 |
0.576 |
|
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